Premium
Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses
Author(s) -
Kasraian Zeinab,
Trompezinski Sandra,
CarioAndré Muriel,
MoricePicard Fanny,
Ged Cécile,
Jullie MarieLaure,
Taieb Alain,
Rezvani Hamid Reza
Publication year - 2019
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12720
Subject(s) - nucleotide excision repair , dna repair , biology , dna damage , hyperpigmentation , effector , genetics , xeroderma pigmentosum , dna , medicine , cancer research , microbiology and biotechnology
Skin pigmentation abnormalities are manifested in several disorders associated with deficient DNA repair mechanisms such as nucleotide excision repair ( NER ) and double‐strand break ( DSB ) diseases, a topic that has not received much attention up to now. Hereditary disorders associated with defective DNA repair are valuable models for understanding mechanisms that lead to hypo‐ and hyperpigmentation. Owing to the UV ‐associated nature of abnormal pigmentary manifestations, the outcome of the activated DNA damage response ( DDR ) network could be the effector signal for alterations in pigmentation, ultimately manifesting as pigmentary abnormalities in repair‐deficient disorders. In this review, the role of the DDR network in the manifestation of pigmentary abnormalities in NER and DSB disorders is discussed with a special emphasis on NER disorders.